Search clinical trials for: X-linked inherited retinal disorder

Total 150566 results

Centre Hospitalier Universitaire de Liege
Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators

Recruiting

Baby Detect : Genomic Newborn Screening

Congenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditions

Belgium
Sanford Health
National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators

Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions

United States, Australia
Biogen

Completed

Natural Disease Progression in Participants With Choroideremia

Choroideremia

United States
Xinhua Hospital, Shanghai Jiao Tong University...
HuidaGene Therapeutics Co., Ltd.

Recruiting

Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)

Leber Congenital Amaurosis

China
HuidaGene Therapeutics Co., Ltd.
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Recruiting

Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial (LIGHT)

Leber Congenital Amaurosis

China
HuidaGene Therapeutics Co., Ltd.
Cholgene Therapeutics, Inc.

Recruiting

Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR) (STAR)

Leber Congenital Amaurosis | Inherited Retinal Diseases Caused by RPE65 Mutations

United States, China
The Hospital for Sick Children

Recruiting

Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders

Genetic Disease | Inherited Disease

Canada
Paul Szabolcs

Recruiting

Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC (PRO-RIC)

Congenital Bone Marrow Failure Syndromes | Inflammatory Conditions | Primary Immunodeficiency (PID) | Inherited Metabolic Disorders (IMD) | Hereditary Anemias

United States
MejoraVisionMD
Maisonneuve-Rosemont Hospital; Retina and Genomics Institute

Recruiting

Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.

Retinitis Pigmentosa | Usher Syndromes | Cone Dystrophy | Retina; Dystrophy

Mexico
Foundation Fighting Blindness

Recruiting

Inherited Retinal Degenerative Disease Registry (MRTR)

Retinitis Pigmentosa | Choroideremia | Usher Syndrome | Batten Disease | Leber Congenital Amaurosis | Goldmann-Favre Syndrome | Kearns-Sayre Syndrome | Retinal Disease | Bardet-Biedl Syndrome | Stargardt Disease | Cone Dystrophy | Retinoschisis | Achromatopsia | Gyrate Atrophy | Eye Diseases Hereditary | Bassen-Kornzweig... and other conditions

United States
Paul Szabolcs

Recruiting

Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (HSCT+RIC)

Congenital Bone Marrow Failure Syndromes | Inflammatory Conditions | Primary Immunodeficiency (PID) | Inherited Metabolic Disorders (IMD) | Hereditary Anemias | Systemic Juvenile Idiopathic Arthritis (sJIA)

United States
Washington University School of Medicine

Recruiting

Immune Disorder HSCT Protocol

Severe Combined Immunodeficiency | Chronic Granulomatous Disease | DiGeorge Syndrome | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Syndrome | X-linked Agammaglobulinemia | Chediak-Higashi Syndrome | IPEX | Autoimmune Lymphoproliferative Syndrome | Common Variable... and other conditions

United States
Masonic Cancer Center, University of Minnesota

Recruiting

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

Common Variable Immunodeficiency | Chronic Granulomatous Disease | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Disease | Langerhan's Cell Histiocytosis | Chediak-Higashi Syndrome | Griscelli Syndrome | Bare Lymphocyte Syndrome | SCID | Omenn's Syndrome | Reticular... and other conditions

United States
Spark Therapeutics, Inc.
Children's Hospital of Philadelphia; University of Iowa

Active, not recruiting

Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis

Leber Congenital Amaurosis | Inherited Retinal Dystrophy Due to RPE65 Mutations

United States
RTI International
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

Early Check: Expanded Screening in Newborns

Primary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditions

United States
National Human Genome Research Institute (NHGRI)

Active, not recruiting

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

Wiskott- Aldrich Syndrome | ADA Deficient SCID

United States
GenSight Biologics

No longer available

EAP_GS010_single Patient

Leber Hereditary Optic Neuropathy (Optic, Atrophy, Hereditary, Leber)
Sun Yat-sen University

Completed

Minocycline Treatment in Retinitis Pigmentosa

Retinitis Pigmentosa | Inherited Retinal Dystrophy | Retina Disorder

China
University of Campania "Luigi Vanvitelli"
Retina Italia Onlus

Completed

Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene (RPE65-NHS)

Leber Congenital Amaurosis 2 | Retinitis Pigmentosa 20

Italy
University of Florida
Live Like Bella Pediatric Cancer Research

Completed

Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation

Common Variable Immunodeficiency | Severe Combined Immunodeficiency | Sickle Cell Disease | Hurler Syndrome | Chronic Granulomatous Disease | Thalassemia | Wiskott-Aldrich Syndrome | Adrenoleukodystrophy | X-linked Lymphoproliferative Disease | Diamond Blackfan Anemia | Bone Marrow Failure Syndrome | Hemophagocytic... and other conditions

United States
SwanBio Therapeutics, Inc.

Active, not recruiting

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia (CYGNET)

AMN | AMN Gene Mutation | X-ALD

United States, Netherlands, Germany
Daniel Benjamin
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Completed

Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care (PTN_POPS)

Heart Failure | Epilepsy | Pain | Pneumonia | Sepsis | Inflammation | Hypertension | Chronic Kidney Diseases | Hemophilia | Schizophrenia | Central Nervous System Infections | Nosocomial Pneumonia | Insomnia | Anxiety | Bipolar Disorder | Neutropenia | Staphylococcal Infections | Bradycardia | Seizures | Urinary Tract Infections | Pulmonary... and other conditions

United States, Canada, United Kingdom, Israel, Singapore
Retinagenix Holdings

Withdrawn

Safety and Efficacy of Zuretinol Acetate in Subjects With Inherited Retinal Disease

Retinal Disorder

United States
ProQR Therapeutics

Terminated

Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)

Eye Diseases | Retinitis Pigmentosa | Eye Diseases, Hereditary | Vision Disorders | Retinal Disease | Eye Disorders Congenital | Usher Syndrome Type 2 | Deaf Blind

United States, United Kingdom
Editas Medicine, Inc.

Active, not recruiting

Single Ascending Dose Study in Participants With LCA10

Retinal Degeneration | Eye Diseases, Hereditary | Vision Disorders | Leber Congenital Amaurosis 10 | Inherited Retinal Dystrophies | Retinal Disease | Eye Disorders Congenital

United States
ProQR Therapeutics

Active, not recruiting

Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)

Eye Diseases | Retinitis Pigmentosa | Eye Diseases, Hereditary | Vision Disorders | Retinal Disease | Eye Disorders Congenital | Usher Syndrome Type 2 | Deaf Blind

United States, Netherlands, United Kingdom, Germany
GenSight Biologics

Active, not recruiting

Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year (REFLECT)

Leber Hereditary Optic Neuropathy

Belgium, Spain, United States, France, United Kingdom, Taiwan, Italy
Applied Genetic Technologies Corp
National Eye Institute (NEI)

Active, not recruiting

Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia (A Clarity Clinical Trial)

Achromatopsia

United States
SparingVision

Active, not recruiting

Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)

Retinitis Pigmentosa

United States, France
SparingVision

Active, not recruiting

Retrospective Natural History Study of Retinitis Pigmentosa (PHENOROD1)

Retinitis Pigmentosa (RP)

France
GenSight Biologics

Completed

REALITY LHON Registry (REALITY)

Leber Hereditary Optic Neuropathy

United States, France, Italy, Spain, United Kingdom
University of Oxford

Completed

Visual and Functional Assessment in Low Vision Patients

Age-related Macular Degeneration | Retinitis Pigmentosa | Inherited Retinal Dystrophies | Optic Nerve Pathology

United Kingdom
Applied Genetic Technologies Corp
National Eye Institute (NEI)

Completed

Clinical and Genetic Characterization of Individuals With Achromatopsia

Achromatopsia

United States
Soma Jyonouchi
Baylor College of Medicine

Completed

Interleukin-2 Treatment for Wiskott-Aldrich Syndrome (WAS)

X-linked Thrombocytopenia | Wiskott-Aldrich Syndrome (WAS)

United States
National Eye Institute (NEI)

Completed

Potential Research Participants for Future Studies of Inherited Eye Diseases

Glaucoma | Macular Degeneration | Retinitis Pigmentosa | Cataract | Strabismus

United States
Children's Hospital Los Angeles
Lucile Packard Children's Hospital

Terminated

Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells

Metabolic Diseases | Stem Cell Transplantation | Chronic Granulomatous Disease | Bone Marrow Transplantation | Thalassemia | Wiskott-Aldrich Syndrome | Genetic Diseases | Peripheral Blood Stem Cell Transplantation | Pediatrics | Diamond-Blackfan Anemia | Allogeneic Transplantation | Combined Immune Deficiency | X-linked Lymphoproliferative Disease
Children's Hospital Los Angeles

Completed

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

Granuloma | Anemia | Thrombocytopenia | Neutropenia | Sickle Cell Disease | Thalassemia | Niemann-Pick Disease | Wiskott-Aldrich Syndrome | Osteopetrosis | Fucosidosis | Chediak Higashi Syndrome | Hurler Disease

United States
QLT Inc.

Completed

Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT

Leber Congenital Amaurosis (LCA) | Retinitis Pigmentosa (RP)

United States, Canada, Denmark, Germany, Netherlands, Switzerland, United Kingdom
Bio Products Laboratory

Completed

A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency

Common Variable Immunodeficiency | Wiskott-Aldrich Syndrome | X-linked Agammaglobulinemia | Primary Immune Deficiency Disorders | Hyper-IgM Syndrome

United States, Chile, Israel
QLT Inc.

Completed

Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)

LCA (Leber Congenital Amaurosis) | RP (Retinitis Pigmentosa)

Canada, United States, Germany, Netherlands, United Kingdom
QLT Inc.

Completed

Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations

LCA (Leber Congenital Amaurosis) | RP (Retinitis Pigmentosa)

United States, Canada, Germany, Netherlands, United Kingdom
Bio Products Laboratory

Completed

Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases.

Primary Immunodeficiency | Wiskott-Aldrich Syndrome | Hypogammaglobulinemia | Common Variable Hypogammaglobulinemia | X-linked Hypogammaglobulinemia | Immunodeficiency With Hyper-IgM

United States
Fairview University Medical Center

Terminated

Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies

Immunologic Deficiency Syndromes | Common Variable Immunodeficiency | Severe Combined Immunodeficiency | Chronic Granulomatous Disease | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | Graft Versus Host Disease | X-linked Agammaglobulinemia | Chediak-Higashi Syndrome | Virus-Associated... and other conditions

United States
Eunice Kennedy Shriver National Institute of Child...
University of Washington

Unknown

Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Wiskott-Aldrich Syndrome | Leukocyte Adhesion Deficiency Syndrome | X-Linked Agammaglobulinemia | X-Linked Hyper IgM Syndrome

United States
Regeneron Pharmaceuticals

Not yet recruiting

An Observational Study to Investigate the Use of Aflibercept 8 mg to Treat Adult Patients With Neovascular Age-Related Macular Degeneration (nAMD) and Diabetic Macular Edema (DME) in a Real-World Setting (SPECTRUM-US)

Visual Impairment | Diabetic Macular Edema (DME) | Neovascular Age-related Macular Degeneration (nAMD) | Wet Age-related Macular Degeneration (AMD)
CSL Behring

Not yet recruiting

Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Chinese Subjects With Hemophilia B Previously Treated With FIX Therapy

Hemophilia B
Washington University School of Medicine
Alzheimer's Association; Eisai Inc.

Not yet recruiting

DIAN-TU Amyloid Removal Trial (ART) in Dominantly Inherited Alzheimer's Disease (DIAN-TU)

Dementia | Alzheimer's Disease | Alzheimer's Disease, Familial

United States, Australia, United Kingdom
University of Wisconsin, Madison

Not yet recruiting

COmparison of Clarus and Optos Ultrawide Field Imaging Systems for Inherited Retinal Disease (COCO-IRD)

Retinal Disease

United States
Regeneron Pharmaceuticals
Intellia Therapeutics

Not yet recruiting

A Trial to Learn if REGV131-LNP1265 is Safe and Works to Help the Body Make Clotting Factor in Pediatric, Adolescent and Adult Patients With Hemophilia B (BEYOND-9)

Hemophilia B
Maastricht University Medical Center
Diabetes Fonds

Recruiting

The Effect of Pyridoxamine Supplementation on Microvascular Function in Type 2 Diabetes (PYRAMID)

Type 2 Diabetes | Neuropathy, Diabetic | Nephropathy, Diabetic | Microvascular Function | Retinopathy, Diabetic

Netherlands

Search clinical trials for: X-linked inherited retinal disorder

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